ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.891G>A (p.Thr297=)

gnomAD frequency: 0.00002  dbSNP: rs750408686
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437325 SCV000514869 benign not specified 2015-04-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001413890 SCV001616012 likely benign Pitt-Hopkins syndrome 2024-01-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003409587 SCV004143137 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing TCF4: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003902486 SCV004719653 likely benign TCF4-related disorder 2023-12-19 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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